Atypical hemolytic-uremic syndrome 1

Common Name(s)

Atypical hemolytic-uremic syndrome 1

Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported ({18:Goodship et al., 1997}; {53:Taylor, 2001}; {56:Veyradier et al., 2003}; {37:Noris et al., 2003}). {38:Noris and Remuzzi (2009)} provided a detailed review of atypical HUS. Genetic Heterogeneity of Atypical Hemolytic Uremic Syndrome Atypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system ({24:Jozsi et al., 2008}). See AHUS2 ({612922}), AHUS3 ({612923}), AHUS4 ({612924}), AHUS5 ({612925}), and AHUS6 ({612926}). AHUS7 (see {615008}) is caused by mutation in the DGKE gene ({601440}), which is not part of the complement cascade system.
 

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Condition Specific Organizations

Following organizations serve the condition "Atypical hemolytic-uremic syndrome 1" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Atypical hemolytic-uremic syndrome 1" returned 2 free, full-text research articles on human participants. First 3 results:

Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome.
 

Author(s): Johannes Hofer, Andreas R Janecke, L B Zimmerhackl, Magdalena Riedl, Alejandra Rosales, Thomas Giner, Gerard Cortina, Carola J Haindl, Barbara Petzelberger, Miriam Pawlik, Verena Jeller, Udo Vester, Bettina Gadner, Michael van Husen, Michael L Moritz, Reinhard Würzner, Therese Jungraithmayr,

Journal: Clin J Am Soc Nephrol. 2013 Mar;8(3):407-15.

 

This study evaluated the relevance of complement factor H (CFH)-related protein (CFHR) 1 deficiency in pediatric patients with atypical hemolytic uremic syndrome (aHUS) by evaluating both the frequency of deletions in CFHR1 and the presence of complement factor H (CFH) antibodies.

Last Updated: 8 Mar 2013

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Atypical hemolytic uremic syndrome-associated variants and autoantibodies impair binding of factor h and factor h-related protein 1 to pentraxin 3.
 

Author(s): Anne Kopp, Stefanie Strobel, Agustín Tortajada, Santiago Rodríguez de Córdoba, Pilar Sánchez-Corral, Zoltán Prohászka, Margarita López-Trascasa, Mihály Józsi

Journal: J. Immunol.. 2012 Aug;189(4):1858-67.

 

Atypical hemolytic uremic syndrome (aHUS) is a renal disease associated with complement alternative pathway dysregulation and is characterized by endothelial injury. Pentraxin 3 (PTX3) is a soluble pattern recognition molecule expressed by endothelial cells and upregulated under inflammatory ...

Last Updated: 3 Aug 2012

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Reviews from the PubMed Database

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The terms "Atypical hemolytic-uremic syndrome 1" returned 0 free, full-text review articles on human participants.

 
 
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